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broadinstitute / seqr

web-based analysis tool for rare disease genomics
GNU Affero General Public License v3.0
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Combined ES + GS data/ short and longreads in a single project #4024

Open lynnpais opened 7 months ago

lynnpais commented 7 months ago

Combined ES + GS data/ short and longreads in a single project

lynnpais commented 5 months ago

Implement before PacBio longread data

hanars commented 4 months ago

Notes on search result behavior: https://docs.google.com/presentation/d/1hqDV8ulhviUcR5C4PtNUqkCLXKDsc6pccgFVlFmWUAU/edit#slide=id.p

Mo7ammedFarahat commented 3 months ago

Does that means that seqr works now with LR VCF? from PacBio and ONT?

hanars commented 3 months ago

Does that means that seqr works now with LR VCF? from PacBio and ONT?

No, we have planned work for early 2025 to support PacBio, which is blocked by this work

Mo7ammedFarahat commented 3 months ago

And what about ONT? And tertiary analysis?

hanars commented 3 months ago

Those are not on our near-term roadmap, but as an open source project we are always willing to collaborate with other groups who are willing to contribute their developer time to build out seqr functionality